Výsledky vyhledávání - "Kelcy Smith-Simmer"

Akademický článek

Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series

Autor: Keith Franke, Jennie Vagher, Julie Boyle, April Hall, Kelcy Smith‐Simmer

Publikováno v: Clinical Case Reports, Vol 10, Iss 3, Pp n/a-n/a (2022)

Abstract Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an inherited cancer predisposition syndrome caused by autosomal dominant heterozygous pathogenic variants in the fumarate hydratase (FH) gene. FH pathogenic variant carriers are at a

Externí odkaz: https://doaj.org/article/d3518d1ed7004f26a4eecc4e70dd0cad

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A Case of Isolated Myeloid Sarcoma Associated With Germline EGFR T790M Variant: The Importance of Recognizing Potential Germline Variants on Somatic Tumor Sequencing Panels

Autor: Margaret Walker, Matthew Folstad, Kelcy Smith-Simmer, Erica Reinig, Kalyan Nadiminti, Lauren Lovrien, Jane E. Churpek, Lauren G. Banaszak

Publikováno v: Journal of Hematology. 11:71-76

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cdce602456f62600df619bce6564a016
https://doi.org/10.14740/jh983

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A Quality Improvement Initiative to Improve Implementation of Guideline-Concordant Hereditary Myeloid Malignancy Syndrome Evaluation

Autor: Lauren G. Banaszak, Paloma Cabral, Kelcy Smith-Simmer, Ayesha Hassan, Matthew J Brunner, Michael J Fallon, Lauren Lovrien, Danielle Golner, Luke Zurbriggen, Ryan J. Mattison, Zhubin Gahvari, Aric C. Hall, Kalyan VG Nadiminti, Erica Reinig, Jane Churpek

Publikováno v: Blood. 140:10828-10829

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eeadf533f0762e74fe1bb66e6626b429
https://doi.org/10.1182/blood-2022-167969

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INNV-05. CO-OCCURRENCES OF A HIGH-GRADE GLIOMA WITH CAVERNOUS MALFORMATIONS AND PATHOGENIC VARIANTS IN PDCD10 AND SMARCA4

Autor: Sudarshawn Damodharan, Hannah Glanz, Kelcy Smith-Simmer, Jeffrey Helgager, Diane Puccetti

Publikováno v: Neuro-Oncology. 24:vii141-vii142

INTRODUCTION The co-occurrence of multiple disease processes can make for more challenging diagnoses. Here we report an unusual case of a patient found to have an IDH1-mutant high-grade glioma along with multiple cerebral cavernous malformations and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fb0a45154cd8b5ebde8d43b96d26b7f6
https://doi.org/10.1093/neuonc/noac209.545

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HGG-19. Co-occurrences of a high-grade glioma with cavernous malformations and pathogenic variants inPDCD10 andSMARCA4

Autor: Hannah Glanz, Sudarshawn Damodharan, Kelcy Smith-Simmer, Kristin Bradley, Susan Rebsamen, Kristin Casey, Bermans Iskandar, Jeffrey Helgager, Diane Puccetti

Publikováno v: Neuro-Oncology. 24:i64-i64

INTRODUCTION: The co-occurrence of multiple disease processes can make for more challenging diagnoses. Here we report an unusual case of a patient found to have an IDH1-mutant high-grade glioma along with multiple cerebral cavernous malformations and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7fb38409cf5d0b99b53d956c8ba6c7c5
https://doi.org/10.1093/neuonc/noac079.234

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